Canonical Allele Identifier: CA1723587101

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402201A= , CM000669.2:g.87402201A=	GRCh38
NC_000007.13:g.87031517A= , CM000669.1:g.87031517A=	GRCh37
NC_000007.12:g.86869453A=	NCBI36
NG_007118.1:g.83232T=
NG_007118.2:g.83232T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3735T=	ENSP00000352135.3:p.Phe1245=
ENST00000649586.2:c.3735T= MANE Select	ENSP00000496956.2:p.Phe1245=
ENST00000265723.8:c.3756T=	ENSP00000265723.4:p.Phe1252=
ENST00000358400.7:c.3594T=	ENSP00000351172.3:p.Phe1198=
ENST00000359206.7:c.3735T=	ENSP00000352135.3:p.Phe1245=
ENST00000440025.1:c.169T=
ENST00000453593.5:c.3594T=	ENSP00000392983.1:p.Phe1198=
ENST00000467983.1:n.347T=
NM_000443.3:c.3735T=	NP_000434.1:p.Phe1245=
NM_018849.2:c.3756T=	NP_061337.1:p.Phe1252=
NM_018850.2:c.3594T=	NP_061338.1:p.Phe1198=
XM_011516308.1:c.3756T=	XP_011514610.1:p.Phe1252=
XM_011516309.1:c.3735T=	XP_011514611.1:p.Phe1245=
XM_011516310.1:c.3651T=	XP_011514612.1:p.Phe1217=
XM_011516311.1:c.3627T=	XP_011514613.1:p.Phe1209=
XM_011516312.1:c.3615T=	XP_011514614.1:p.Phe1205=
XM_011516313.1:c.3594T=	XP_011514615.1:p.Phe1198=
XM_011516314.1:c.3777T=	XP_011514616.1:p.Phe1259=
XM_011516315.1:c.3096T=	XP_011514617.1:p.Phe1032=
XM_011516308.3:c.4026T=	XP_011514610.3:p.Phe1342=
XM_011516309.3:c.4005T=	XP_011514611.3:p.Phe1335=
XM_011516310.3:c.3921T=	XP_011514612.3:p.Phe1307=
XM_011516311.3:c.3897T=	XP_011514613.3:p.Phe1299=
XM_011516312.3:c.3885T=	XP_011514614.3:p.Phe1295=
XM_011516313.3:c.3864T=	XP_011514615.2:p.Phe1288=
XM_011516315.3:c.3096T=	XP_011514617.2:p.Phe1032=
XM_017012323.2:c.3756T=	XP_016867812.1:p.Phe1252=
XR_001744809.2:n.4264T=
NM_000443.4:c.3735T= MANE Select	NP_000434.1:p.Phe1245=
NM_018849.3:c.3756T=	NP_061337.1:p.Phe1252=
NM_018850.3:c.3594T=	NP_061338.1:p.Phe1198=